A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517427



Internal ID15444720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124737465..124754029hg38UCSC Ensembl
Innerchr8:125749707..125766271hg19UCSC Ensembl
Innerchr8:125818888..125835452hg18UCSC Ensembl
Innerchr8:125818888..125835452hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3816565
hg1916565
hg1816565
hg1716565
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv693078, nssv663137
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517427
Frequency
Sample Size2026
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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